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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-3382913-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3382913&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3382913,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001284527.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "NM_001284527.2",
"protein_id": "NP_001271456.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396852.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284527.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000396852.9",
"protein_id": "ENSP00000380061.4",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284527.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396852.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000304926.7",
"protein_id": "ENSP00000302502.3",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304926.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285329",
"gene_hgnc_id": null,
"hgvs_c": "n.-13+17731C>T",
"hgvs_p": null,
"transcript": "ENST00000575785.2",
"protein_id": "ENSP00000477472.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575785.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000853179.1",
"protein_id": "ENSP00000523238.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853179.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000853180.1",
"protein_id": "ENSP00000523239.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853180.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000853181.1",
"protein_id": "ENSP00000523240.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853181.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000853182.1",
"protein_id": "ENSP00000523241.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853182.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000939891.1",
"protein_id": "ENSP00000609950.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939891.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His",
"transcript": "ENST00000970393.1",
"protein_id": "ENSP00000640452.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 697,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970393.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1814G>A",
"hgvs_p": "p.Arg605His",
"transcript": "NM_001324346.2",
"protein_id": "NP_001311275.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 624,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324346.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545His",
"transcript": "NM_001324343.2",
"protein_id": "NP_001311272.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 564,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324343.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001324340.2",
"protein_id": "NP_001311269.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324340.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001324341.2",
"protein_id": "NP_001311270.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324341.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001324342.2",
"protein_id": "NP_001311271.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324342.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001324344.2",
"protein_id": "NP_001311273.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324344.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001324345.2",
"protein_id": "NP_001311274.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324345.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_017810.4",
"protein_id": "NP_060280.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 485,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017810.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389His",
"transcript": "NM_001284528.2",
"protein_id": "NP_001271457.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 408,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284528.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389His",
"transcript": "NM_001284529.2",
"protein_id": "NP_001271458.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 408,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284529.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389His",
"transcript": "ENST00000439568.2",
"protein_id": "ENSP00000391787.2",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 408,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439568.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389His",
"transcript": "ENST00000618425.4",
"protein_id": "ENSP00000483210.1",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 408,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000618425.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 7,
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"gene_symbol": "ZSCAN32",
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"protein_id": "XP_016878860.1",
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},
{
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"protein_coding": true,
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],
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"transcript": "XM_047434275.1",
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"feature": "XM_047434275.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 1,
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"intron_rank_end": null,
"gene_symbol": "ZSCAN32",
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"hgvs_c": "n.1149G>A",
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"transcript": "ENST00000571285.1",
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"transcript_support_level": 6,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571285.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "ZSCAN32",
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"transcript": "ENST00000576500.5",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000576500.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 4,
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"gene_symbol": "ZSCAN32",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000576500.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000285329",
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"hgvs_c": "n.85-1097C>T",
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"transcript": "ENST00000576906.1",
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"transcript_support_level": 5,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000576906.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "LOC105371059",
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"hgvs_c": "n.69-13460C>T",
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"transcript": "XR_007064949.1",
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"aa_start": null,
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064949.1"
}
],
"gene_symbol": "ZSCAN32",
"gene_hgnc_id": 20812,
"dbsnp": "rs201245225",
"frequency_reference_population": 0.00021002999,
"hom_count_reference_population": 0,
"allele_count_reference_population": 338,
"gnomad_exomes_af": 0.000221685,
"gnomad_genomes_af": 0.0000985092,
"gnomad_exomes_ac": 323,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12132838368415833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.5558,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.586,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001284527.2",
"gene_symbol": "ZSCAN32",
"hgnc_id": 20812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Arg678His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000575785.2",
"gene_symbol": "ENSG00000285329",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-13+17731C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007064949.1",
"gene_symbol": "LOC105371059",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.69-13460C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}